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Aliases for ARHGEF1 Gene

Aliases for ARHGEF1 Gene

  • Rho Guanine Nucleotide Exchange Factor 1 2 3 5
  • Rho Guanine Nucleotide Exchange Factor (GEF) 1 2 3
  • 115 KDa Guanine Nucleotide Exchange Factor 3 4
  • P115-RHOGEF 3 4
  • P115RhoGEF 3 4
  • SUB1.5 3 4
  • 115-KD Protein 3
  • Lsc Homolog 3
  • LBCL2 3
  • GEF1 3
  • LSC 3

External Ids for ARHGEF1 Gene

Previous GeneCards Identifiers for ARHGEF1 Gene

  • GC19P043026
  • GC19P042778
  • GC19P047063
  • GC19P047079
  • GC19P042387
  • GC19P038818

Summaries for ARHGEF1 Gene

Entrez Gene Summary for ARHGEF1 Gene

  • Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants have been found for this gene, but the full-length nature of some variants has not been defined. [provided by RefSeq, Jul 2008]

GeneCards Summary for ARHGEF1 Gene

ARHGEF1 (Rho Guanine Nucleotide Exchange Factor 1) is a Protein Coding gene. Diseases associated with ARHGEF1 include skin lipoma and paralytic poliomyelitis. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. GO annotations related to this gene include poly(A) RNA binding and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is ARHGEF12.

UniProtKB/Swiss-Prot for ARHGEF1 Gene

  • Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation.

Gene Wiki entry for ARHGEF1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGEF1 Gene

Genomics for ARHGEF1 Gene

Regulatory Elements for ARHGEF1 Gene

Promoters for ARHGEF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ARHGEF1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ARHGEF1 gene promoter:

Genomic Location for ARHGEF1 Gene

Chromosome:
19
Start:
41,883,161 bp from pter
End:
41,930,150 bp from pter
Size:
46,990 bases
Orientation:
Plus strand

Genomic View for ARHGEF1 Gene

Genes around ARHGEF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARHGEF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARHGEF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARHGEF1 Gene

Proteins for ARHGEF1 Gene

  • Protein details for ARHGEF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92888-ARHG1_HUMAN
    Recommended name:
    Rho guanine nucleotide exchange factor 1
    Protein Accession:
    Q92888
    Secondary Accessions:
    • O00513
    • Q6NX52
    • Q8N4J4
    • Q96BF4
    • Q96F17
    • Q9BSB1

    Protein attributes for ARHGEF1 Gene

    Size:
    912 amino acids
    Molecular mass:
    102435 Da
    Quaternary structure:
    • Interacts with RHOA, GNA12 and GNA13. Homooligomerizes through the coiled coil region. May interact with CCPG1 (By similarity). Interacts with CTNNAL1.
    SequenceCaution:
    • Sequence=CAA70356.1; Type=Frameshift; Positions=904; Evidence={ECO:0000305}; Sequence=CAA70356.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the N-terminal part.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for ARHGEF1 Gene

    Alternative splice isoforms for ARHGEF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARHGEF1 Gene

Proteomics data for ARHGEF1 Gene at MOPED

Post-translational modifications for ARHGEF1 Gene

  • Phosphorylated by PKCA. Angiotensin-2 induced Tyr-738 phosphorylation is mediated by JAK2.
  • Ubiquitination at Lys 510, Lys 567, and Lys 701
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ARHGEF1 (ARHGEF1)

No data available for DME Specific Peptides for ARHGEF1 Gene

Domains & Families for ARHGEF1 Gene

Gene Families for ARHGEF1 Gene

Protein Domains for ARHGEF1 Gene

Suggested Antigen Peptide Sequences for ARHGEF1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92888

UniProtKB/Swiss-Prot:

ARHG1_HUMAN :
  • The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity.
Domain:
  • The RGSL domain, also known as rgRGS domain, is necessary but not sufficient for GAP activity.
  • The DH domain is involved in interaction with CCPG1.
  • Contains 1 DH (DBL-homology) domain.
  • Contains 1 PH domain.
  • Contains 1 RGSL (RGS-like) domain.
genes like me logo Genes that share domains with ARHGEF1: view

Function for ARHGEF1 Gene

Molecular function for ARHGEF1 Gene

UniProtKB/Swiss-Prot Function:
Seems to play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13) subunits. Acts as GTPase-activating protein (GAP) for GNA12 and GNA13, and as guanine nucleotide exchange factor (GEF) for RhoA GTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activity through interaction with the RGS-like domain. This GEF activity is inhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation.

Gene Ontology (GO) - Molecular Function for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005089 Rho guanyl-nucleotide exchange factor activity TAS --
GO:0005096 GTPase activator activity IEA --
genes like me logo Genes that share ontologies with ARHGEF1: view
genes like me logo Genes that share phenotypes with ARHGEF1: view

Animal Models for ARHGEF1 Gene

MGI Knock Outs for ARHGEF1:

Animal Model Products

  • Taconic Biosciences Mouse Models for ARHGEF1

miRNA for ARHGEF1 Gene

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ARHGEF1 Gene

Localization for ARHGEF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARHGEF1 Gene

Cytoplasm. Membrane. Note=Translocated to the membrane by activated GNA13 or LPA stimulation.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ARHGEF1 Gene COMPARTMENTS Subcellular localization image for ARHGEF1 gene
Compartment Confidence
cytosol 5
plasma membrane 5
nucleus 3
chloroplast 2
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA --
genes like me logo Genes that share ontologies with ARHGEF1: view

Pathways & Interactions for ARHGEF1 Gene

genes like me logo Genes that share pathways with ARHGEF1: view

SIGNOR curated interactions for ARHGEF1 Gene

Activates:
Inactivates:
Is activated by:

Gene Ontology (GO) - Biological Process for ARHGEF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007266 Rho protein signal transduction TAS 10747909
GO:0035023 regulation of Rho protein signal transduction IEA --
GO:0043547 positive regulation of GTPase activity IEA,TAS 8810315
GO:0048011 neurotrophin TRK receptor signaling pathway TAS --
GO:0050770 regulation of axonogenesis TAS --
genes like me logo Genes that share ontologies with ARHGEF1: view

Drugs & Compounds for ARHGEF1 Gene

(5) Drugs for ARHGEF1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine diphosphate Experimental Pharma 0
Guanosine monophosphate Experimental Pharma 0
Guanosine triphosphate Experimental Pharma 0

(1) Additional Compounds for ARHGEF1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ARHGEF1: view

Transcripts for ARHGEF1 Gene

Unigene Clusters for ARHGEF1 Gene

Rho guanine nucleotide exchange factor (GEF) 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ARHGEF1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - -
SP2: - - - - - -
SP3: - - - - - - - -
SP4: - - - - - -
SP5: -
SP6: - - - - -
SP7: - - - -
SP8:
SP9:
SP10:
SP11: -
SP12: - - - - -

ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
SP1: -
SP2: -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:

Relevant External Links for ARHGEF1 Gene

GeneLoc Exon Structure for
ARHGEF1
ECgene alternative splicing isoforms for
ARHGEF1

Expression for ARHGEF1 Gene

mRNA expression in normal human tissues for ARHGEF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ARHGEF1 Gene

This gene is overexpressed in Whole Blood (x9.4) and Spleen (x4.1).

Protein differential expression in normal tissues from HIPED for ARHGEF1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.1), Tlymphocyte (14.1), Lymph node (9.0), CD8 Tcells (8.6), and NK cells (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ARHGEF1 Gene



SOURCE GeneReport for Unigene cluster for ARHGEF1 Gene Hs.631550

mRNA Expression by UniProt/SwissProt for ARHGEF1 Gene

Q92888-ARHG1_HUMAN
Tissue specificity: Ubiquitously expressed.
genes like me logo Genes that share expression patterns with ARHGEF1: view

Protein tissue co-expression partners for ARHGEF1 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for ARHGEF1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ARHGEF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ARHGEF1 35
  • 86.26 (n)
  • 84.84 (a)
ARHGEF1 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ARHGEF1 35
  • 85.45 (n)
  • 85.96 (a)
-- 36
  • 86 (a)
OneToMany
-- 36
  • 86 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Arhgef1 35
  • 86.11 (n)
  • 89.11 (a)
Arhgef1 16
Arhgef1 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ARHGEF1 35
  • 95.42 (n)
  • 94.43 (a)
ARHGEF1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Arhgef1 35
  • 85.65 (n)
  • 89.37 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 7 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia ARHGEF1 36
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 36
  • 16 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia arhgef1 35
  • 61.33 (n)
  • 56.85 (a)
zebrafish
(Danio rerio)
Actinopterygii arhgef1b 36
  • 38 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta RhoGEF2 37
  • 36 (a)
RhoGEF2 36
  • 9 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F13E6.6 37
  • 35 (a)
rhgf-1 36
  • 17 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ROM1 36
  • 10 (a)
ManyToMany
ROM2 36
  • 9 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 23 (a)
OneToMany
Species with no ortholog for ARHGEF1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARHGEF1 Gene

ENSEMBL:
Gene Tree for ARHGEF1 (if available)
TreeFam:
Gene Tree for ARHGEF1 (if available)

Paralogs for ARHGEF1 Gene

genes like me logo Genes that share paralogs with ARHGEF1: view

Variants for ARHGEF1 Gene

Sequence variations from dbSNP and Humsavar for ARHGEF1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2303797 - 41,898,444(+) CAGCC(C/T)CGAGC reference, missense
VAR_035969 A colorectal cancer sample
rs891167 -- 41,883,736(+) ACAAC(A/G)ATAAC intron-variant, upstream-variant-2KB
rs891168 -- 41,885,182(+) CACCT(A/G)TAATT intron-variant
rs1131874 -- 41,905,253(+) CCCAG(C/G)CCGAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ARHGEF1 Gene

Variant ID Type Subtype PubMed ID
nsv522854 CNV Gain 19592680
dgv3882n71 CNV Loss 21882294
dgv3883n71 CNV Loss 21882294
nsv520239 CNV Loss 19592680
esv2718581 CNV Deletion 23290073
nsv911779 CNV Loss 21882294
esv2399724 CNV Deletion 18987734
esv2672585 CNV Deletion 23128226
esv2660933 CNV Deletion 23128226
esv2718582 CNV Deletion 23290073
esv2718583 CNV Deletion 23290073
esv22227 CNV Loss 19812545
nsv820680 CNV Deletion 20802225
esv2718586 CNV Deletion 23290073
esv2227579 CNV Deletion 18987734

Variation tolerance for ARHGEF1 Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.43; 42.83% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ARHGEF1 Gene

HapMap Linkage Disequilibrium report
ARHGEF1
Human Gene Mutation Database (HGMD)
ARHGEF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGEF1 Gene

Disorders for ARHGEF1 Gene

MalaCards: The human disease database

(13) MalaCards diseases for ARHGEF1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
skin lipoma
  • cutaneous lipoma
paralytic poliomyelitis
  • poliomyelitis, paralytic
third cranial nerve disease
  • oculomotor nerve paralysis
oculomotor nerve paralysis
  • iii nerve palsy
persian gulf syndrome
  • gulf war syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for ARHGEF1

Genetic Association Database (GAD)
ARHGEF1
Human Genome Epidemiology (HuGE) Navigator
ARHGEF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ARHGEF1
genes like me logo Genes that share disorders with ARHGEF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ARHGEF1 Gene

Publications for ARHGEF1 Gene

  1. Characterization, expression and chromosomal localization of a human gene homologous to the mouse Lsc oncogene, with strongest expression in hematopoetic tissues. (PMID: 9135076) Aasheim H.-C. … Smeland E.B. (Oncogene 1997) 2 3 4 23 67
  2. Functional consequences of G alpha 13 mutations that disrupt interaction with p115RhoGEF. (PMID: 15735747) Grabocka E. … Wedegaertner P.B. (Oncogene 2005) 3 23
  3. Association of CNK1 with Rho guanine nucleotide exchange factors controls signaling specificity downstream of Rho. (PMID: 15753034) Jaffe A.B. … Schmidt A. (Curr. Biol. 2005) 3 23
  4. Thrombin and lysophosphatidic acid receptors utilize distinct rhoGEFs in prostate cancer cells. (PMID: 15143072) Wang Q. … Neubig R.R. (J. Biol. Chem. 2004) 3 23
  5. Mapping the Galpha13 binding interface of the rgRGS domain of p115RhoGEF. (PMID: 12525488) Chen Z. … Sternweis P.C. (J. Biol. Chem. 2003) 3 23

Products for ARHGEF1 Gene

Sources for ARHGEF1 Gene

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